Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.


Erman B. , Bilic I., Hirschmugl T., Salzer E., ÇAĞDAŞ AYVAZ D. N. , Esenboga S. , ...More

Haematologica, vol.100, no.6, 2015 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Letter
  • Volume: 100 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.3324/haematol.2014.120980
  • Title of Journal : Haematologica
  • Keywords: combined immunodeficiencies, loss-of-function mutation, IL21R, CD4 lymphopenia, sclerosing cholangitis, SECRETING PLASMA-CELLS, IL-21 RECEPTOR, B-CELLS, INTERLEUKIN-21, DIFFERENTIATION, RESPONSES, STAT3, DEFICIENCY, ACTIVATION, NAIVE